Oxidative damage to mitochondrial DNA shows marked age‐dependent increases in human brain

Patrizia Mecocci, Usha MacGarvey, A. Kaufman, +4

Annals of Neurology

Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle

Simon Melov, John M. Shoffner, A. Kaufman, +1

Nucleic Acids Research

DnaAgingGeneticsMolecular BiologyMolecular Genetics +18

Novel mitochondrial DNA deletion found in a renal cell carcinoma

Terzah M. Horton, John A. Petros, Abdelaziz Heddi, +5

Genes Chromosomes and Cancer

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

John M. Shoffner, Michael D. Brown, Carol Stugard, +10

Annals of Neurology

Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients

Terzah M. Horton, Brett H. Graham, Marisol Corral‐Debrinski, +4

Neurology

Mitochondria1 encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNA ^Leu(UUR) gene

John M. Shoffner, Martin G. Bialer, Steven G. Pavlakis, +5

Neurology

Insulin resistance associated with maternally inherited diabetes and deafness

Suzanne S P Gebhart, John M. Shoffner, Deborah Koontz, +2

Metabolism

Insulin ResistanceDiabetesPediatricsGestational DiabetesMaternal Health +3

Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu[UUR] gene

Priya S. Kishnani, Johan L.K. Van Hove, J. S. Shoffner, +3

European Journal of Pediatrics

Lactic AcidosisNucleotide 3243GastroenterologyPathologyMedicine +1

Physical studies on the membranes and lipids of plasmalogen-deficient Megasphaera elsdenii

A. Kaufman, Howard Goldfine, Onuttom Narayan, +1

Chemistry and Physics of Lipids

BiologyBiochemistryNatural SciencesMembrane TransportPlasmalogen-deficient Megasphaera Elsdenii +5

Renal amino acid transport in adults with oxidative phosphorylation diseases

John M. Shoffner, Alexander S. Voljavec, John R. Dixon, +3

Kidney International

UrologyRenal FunctionBiochemistryMedicineKidney Failure +7